{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021605",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.235G>T (p.Glu79Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=179878[alleleid]",
        "alleleId": 179878,
        "preferredName": "NM_000169.3(GLA):c.235G>T (p.Glu79Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180834",
        "RCV": [
          "RCV000733596",
          "RCV002516375"
        ],
        "variationId": 180834
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100658933C>A?assembly=hg19",
        "id": "chrX:g.100658933C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101403945C>A?assembly=hg38",
        "id": "chrX:g.101403945C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880443",
        "rs": 730880443
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 101403945,
          "referenceAllele": "C",
          "start": 101403944
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101403945C>A",
        "CM000685.2:g.101403945C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100658933,
          "referenceAllele": "C",
          "start": 100658932
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100658933C>A",
        "CM000685.1:g.100658933C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100545589,
          "referenceAllele": "C",
          "start": 100545588
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100545589C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "G",
          "start": 9018
        }
      ],
      "hgvs": [
        "NG_007119.1:g.9019G>T",
        "LRG_672:g.9019G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "hgvs": [
        "NG_016327.1:g.743C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000501124.2:p.Glu79_Leu222delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyGluSerArgLeuSerIleGlyHisArgGluArgSerIlePheIleProAlaPheProGlnTyrThrHisHisLeuCysThrThrSerSerGluGlnSerGlnGlnSerGlyArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000501044.2:p.Glu79_Leu222delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyGluSerArgLeuSerIleGlyHisArgGluArgSerIlePheIleProAlaPheProGlnTyrThrHisHisLeuCysThrThrSerSerGluGlnSerGlnGlnSerGlyArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.310G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Glu104Ter",
        "hgvsWellDefined": "ENSP00000518234.1:p.Glu104_Leu454delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000218516.4:p.Glu79_Leu429delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.235G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.235G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Glu79Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Glu79Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.154G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.296G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.233G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000497055.1:p.Glu79_Cys199delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspAlaGlnLeuTyrArgAsnProThrValLeuGlnSerLeuAlaLysPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.165G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.358G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Glu120Ter",
        "hgvsWellDefined": "ENSP00000498186.1:p.Glu120_Leu470delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000501044.1:p.Glu55_Leu198delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyGluSerArgLeuSerIleGlyHisArgGluArgSerIlePheIleProAlaPheProGlnTyrThrHisHisLeuCysThrThrSerSerGluGlnSerGlnGlnSerGlyArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.322G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000502629.2:p.Glu79_Ser362delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnValAsnLysSerIleTyrPheLysMetAlaLeuTyrThrGlnTyrGlnLeuCysLeuGlyProLysSerIlePhePheProCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000502239.1:p.Glu79_Leu363delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000502661.1:p.Glu79_Cys199delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspAlaGlnLeuTyrArgAsnProThrValLeuGlnSerLeuAlaLysPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.296G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000501730.1:p.Glu79_Leu417delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000502805.1:p.Glu79_Thr270delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetValLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000218516.3:p.Glu79_Leu429delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 7990,
          "referenceAllele": "C",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.301-7991C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.301-7991C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 7990,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.178-7991C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.178-7991C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.1:n.219G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.5:n.165G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.5:n.165G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:p.Glu79Ter",
        "hgvsWellDefined": "ENSP00000476935.1:p.Glu79_Cys222delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysSerSerThrLeuPheGlySerIleCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296028",
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.235G>T",
        "LRG_672t1:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Glu79Ter",
        "hgvsWellDefined": "NP_000160.1:p.Glu79_Leu429delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 7990,
          "referenceAllele": "C",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.409-7991C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.409-7991C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 7990,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.286-7991C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.286-7991C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "G",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.263G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.284G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 7990,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.301-7991C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.301-7991C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 7990,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.178-7991C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.178-7991C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296028",
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.235G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Glu79Ter",
        "hgvsWellDefined": "NP_000160.1:p.Glu79_Leu429delinsGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.235G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.235G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Glu79Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Glu79Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.257G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}